Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta
Abstract Background Mucolipidosis (ML) II and III alpha/beta are lysosomal disorders caused by mutations in the GNPTAB gene which encodes the alpha and beta subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase. Method To explore the clinical and molecular characteristics...
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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2024-12-01
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| Col·lecció: | BMC Pediatrics |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1186/s12887-024-05223-x |
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